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General Information
ZIRC
OBO ID: DOID:0060639
Term Name: permanent neonatal diabetes mellitus Search Ontology:
Synonyms:
  • PDMI
  • permanent diabetes mellitus of infancy
  • PNDM
Definition: A neonatal diabetes mellitus that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.https://www.ncbi.nlm.nih.gov/pubmed/17213273
References:
Ontology: Human Disease   (DOID:0060639)
OTHER permanent neonatal diabetes mellitus PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCC8 Diabetes mellitus, permanent neonatal 606176
GCK Diabetes mellitus, permanent neonatal 606176
INS Diabetes mellitus, permanent neonatal 606176
KCNJ11 Diabetes, permanent neonatal, with or without neurologic features 606176
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None